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A population-level analysis of mutations affecting 5'ss splicing

Wild-type processing of RNA transcripts by the splicing machinery is a fundamental step in the gene expression pathway. Mutations affecting this step can produce aberrant splicing with deleterious effects that ultimately lead to disease. Mutation databases curating the scientific literature store an increasing number of single nucleotide variants (SNVs) inducing aberrant splicing involved in disease. Yet, this increase is far below the current growth rate of genetically profiled diseased individuals. This results in many SNVs of unknown effect. In this context, understanding the deleterious effects of SNVs on 5'ss splicing becomes extremely important to attempt a sensible prioritization of such SNVs. Population-level allele frequencies constitute a valuable resource to gather understanding of mutation processes. We have used the last release of the 1000 Genomes and the ExAC catalogs of human variation to characterize mutations that affect 5'ss splicing and attempt a sensible prioritization of such SNVs.